Product Details

SNP ID

rs148181636

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:121743840 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAACACCTGCAATCGGTCAGGTTCC[A/G]TACTGCGATCCTCATCCACTGCAAC

Phenotype

MIM: 607103

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATE1 PubMed Links

Gene Details

Gene

ATE1

Gene Name

arginyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001976.2	1291	Missense Mutation	ACG,ATG	T466M	NP_001001976.1
NM_001288734.1	1291	Missense Mutation	ACG,ATG	T351M	NP_001275663.1
NM_001288735.1	1291	Missense Mutation	ACG,ATG	T370M	NP_001275664.1
NM_001288736.1	1291	Missense Mutation	ACG,ATG	T459M	NP_001275665.1
NM_007041.3	1291	Missense Mutation	ACG,ATG	T466M	NP_008972.2
XM_005269458.2	1291	Missense Mutation	ACG,ATG	T509M	XP_005269515.1
XM_005269459.3	1291	Missense Mutation	ACG,ATG	T502M	XP_005269516.1
XM_017015597.1	1291	Missense Mutation	ACG,ATG	T432M	XP_016871086.1
XM_017015598.1	1291	Missense Mutation	ACG,ATG	T459M	XP_016871087.1
XM_017015599.1	1291	Missense Mutation	ACG,ATG	T423M	XP_016871088.1
XM_017015600.1	1291	Missense Mutation	ACG,ATG	T394M	XP_016871089.1
XM_017015601.1	1291	Intron			XP_016871090.1
XM_017015602.1	1291	Missense Mutation	ACG,ATG	T351M	XP_016871091.1
XM_017015603.1	1291	Intron			XP_016871092.1
XM_017015604.1	1291	Missense Mutation	ACG,ATG	T308M	XP_016871093.1

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